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公开(公告)号：US06475739B2
公开(公告)日：2002-11-05
申请号：US09918686
申请日：2001-07-30
Applicant: Mary E. Brunkow , Sean Proll , Bryan Paeper , Karen Staehling-Hampton
Inventor： Mary E. Brunkow , Sean Proll , Bryan Paeper , Karen Staehling-Hampton
IPC: C12Q168
CPC classification number: C12Q1/6883 , C12Q2600/156
Abstract: The genomic locus responsible for Van Buchem's disease is narrowed to an approximately 92 kb region of human chromosome 17 at 17q21. Individuals afflicted with or carriers of Van Buchem's disease exhibit a 52 kb deletion within this 92 kb region. Methods are provided that permit the differentiation between individuals homozygous for and therefore afflicted with Van Buchem's disease, individuals heterozygous for and therefore carriers of Van Buchem's disease, and individuals who are normal with respect to Van Buchem's disease. Also provided are general methodologies for the detection of a wide variety of large genomic deletions.
Abstract translation: 负责Van Buchem病的基因组位点在17q21处被缩窄为人类染色体17的约92kb区域。 患有Van Buchem病的患者或携带者在该92 kb区域内显示52 kb的缺失。 提供了允许对Van Buchem氏病纯合并因此患病的个体之间的差异，对Van Buchem氏病是杂合的，因此携带者以及Van Buchem氏病正常的个体之间的区分。 还提供了用于检测各种大型基因组缺失的一般方法。
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公开(公告)号：US20110070588A1
公开(公告)日：2011-03-24
申请号：US12870568
申请日：2010-08-27
Applicant: Mary E. BRUNKOW , Sean PROLL , Bryan W. PAEPER , Karen STAEHLING-HAMPTON
Inventor： Mary E. BRUNKOW , Sean PROLL , Bryan W. PAEPER , Karen STAEHLING-HAMPTON
IPC: C12Q1/68
CPC classification number: C12Q1/6883 , C12Q2600/156
Abstract: The genomic locus responsible for Van Buchem's disease is narrowed to an approximately 92 kb region of human chromosome 17 at 17q21. Individuals afflicted with or carriers of Van Buchem's disease exhibit a 52 kb deletion within this 92 kb region. Methods are provided that permit the differentiation between individuals homozygous for and therefore afflicted with Van Buchem's disease, individuals heterozygous for and therefore carriers of Van Buchem's disease, and individuals who are normal with respect to Van Buchem's disease. Also provided are general methodologies for the detection of a wide variety of large genomic deletions.
Abstract translation: 负责Van Buchem病的基因组位点在17q21处被缩窄为人类染色体17的约92kb区域。 患有Van Buchem病的患者或携带者在该92 kb区域内显示52 kb的缺失。 提供了允许对Van Buchem氏病纯合并因此患病的个体之间的差异，对Van Buchem氏病是杂合的，因此携带者以及Van Buchem氏病正常的个体之间的区分。 还提供了用于检测各种大型基因组缺失的一般方法。
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Patent Agency Ranking
3.发明授权Association of polymorphisms in the SOST gene region with bone mineral density 有权SOST基因区域多态性与骨矿物质密度的关系公开(公告)号：US07799523B2
公开(公告)日：2010-09-21
申请号：US10408168
申请日：2003-04-03
Applicant: Bryan W. Paeper , Sean Proll , Patrick R. Charmley , Mary E. Brunkow , Andreas Gerardus Uitterlinden
Inventor： Bryan W. Paeper , Sean Proll , Patrick R. Charmley , Mary E. Brunkow , Andreas Gerardus Uitterlinden
CPC classification number: C12Q1/6883 , C12Q2600/156
Abstract: Compositions and methods are provided for determining in a subject a risk for having, or presence of, altered bone mineral density such as osteoporosis or osteopenia or other conditions characterized by decreased or increased bone density. Specifically, the invention relates to determination of a sclerostin gene region nucleotide polymorphism (SRP) in DNA of the sclerostin gene region of human chromosome 17. In certain embodiments, SRPs that indicate an increased risk for altered bone mineral density occur as gender-associated polymorphisms. Isolated polynucleotides comprising representative SRPs are also provided.
Abstract translation: 提供组合物和方法用于在受试者中确定具有或存在改变的骨矿物质密度（例如骨质疏松症或骨质减少症或其他以骨密度降低或增加为特征的其他病症）的风险。 具体地，本发明涉及确定人染色体17的硬化蛋白基因区域中的硬核蛋白基因区域核苷酸多态性（SRP）。在某些实施方案中，指示改变的骨矿物质密度增加的风险的SRP作为性别相关多态性 。 还提供了包含代表性SRP的分离的多核苷酸。
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公开(公告)号：US20100003755A1
公开(公告)日：2010-01-07
申请号：US11825118
申请日：2007-07-03
Applicant: Mary E. Brunkow , Sean Proll , Bryan W. Paeper , Karen Staehling-Hampton
Inventor： Mary E. Brunkow , Sean Proll , Bryan W. Paeper , Karen Staehling-Hampton
IPC: C12N15/00
CPC classification number: C12Q1/6883 , C12Q2600/156
Abstract: The genomic locus responsible for Van Buchem's disease is narrowed to an approximately 92 kb region of human chromosome 17 at 17q21. Individuals afflicted with or carriers of Van Buchem's disease exhibit a 52 kb deletion within this 92 kb region. Methods are provided that permit the differentiation between individuals homozygous for and therefore afflicted with Van Buchem's disease, individuals heterozygous for and therefore carriers of Van Buchem's disease, and individuals who are normal with respect to Van Buchem's disease. Also provided are general methodologies for the detection of a wide variety of large genomic deletions.
Abstract translation: 负责Van Buchem病的基因组位点在17q21处被缩窄为人类染色体17的约92kb区域。 患有Van Buchem病的患者或携带者在该92 kb区域内显示52 kb的缺失。 提供了允许对Van Buchem氏病纯合并因此患病的个体之间的差异，对Van Buchem氏病是杂合的，因此是Van Buchem氏病携带者的个体以及Van Buchem氏病的正常个体。 还提供了用于检测各种大型基因组缺失的一般方法。
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公开(公告)号：US20120129170A1
公开(公告)日：2012-05-24
申请号：US13342805
申请日：2012-01-03
Applicant: MARY E. BRUNKOW , SEAN PROLL , BRYAN W. PAEPER , KAREN STAEHLING-HAMPTON
Inventor： MARY E. BRUNKOW , SEAN PROLL , BRYAN W. PAEPER , KAREN STAEHLING-HAMPTON
IPC: C12Q1/68
CPC classification number: C12Q1/6883 , C12Q2600/156
Abstract: The genomic locus responsible for Van Buchem's disease is narrowed to an approximately 92 kb region of human chromosome 17 at 17q21. Individuals afflicted with or carriers of Van Buchem's disease exhibit a 52 kb deletion within this 92 kb region. Methods are provided that permit the differentiation between individuals homozygous for and therefore afflicted with Van Buchem's disease, individuals heterozygous for and therefore carriers of Van Buchem's disease, and individuals who are normal with respect to Van Buchem's disease. Also provided are general methodologies for the detection of a wide variety of large genomic deletions.
Abstract translation: 负责Van Buchem病的基因组位点在17q21处被缩窄为人类染色体17的约92kb区域。 患有Van Buchem病的患者或携带者在该92 kb区域内显示52 kb的缺失。 提供了允许对Van Buchem氏病纯合并因此患病的个体之间的差异，对Van Buchem氏病是杂合的，因此携带者以及Van Buchem氏病正常的个体之间的区分。 还提供了用于检测各种大型基因组缺失的一般方法。
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公开(公告)号：US20060083740A1
公开(公告)日：2006-04-20
申请号：US10496284
申请日：2002-11-21
Applicant: Fred Ramsdell , Sean Proll , Karen Staehling-Hampton , Mark Appleby , Leon Garcia-Martinez
Inventor： Fred Ramsdell , Sean Proll , Karen Staehling-Hampton , Mark Appleby , Leon Garcia-Martinez
IPC: A61K39/395 , C07K16/24
CPC classification number: C07K16/2803 , A61K38/00 , A61K2039/505 , C07K14/70503 , C07K2317/56 , C07K2317/565 , Y02A50/397 , Y02A50/41 , Y02A50/423 , Y02A50/484
Abstract: The invention provides methods for modulating cytokine levels, GM-CSF levels and the immune system using CD83 nucleic acids, CD83 polypeptides, anti-CD83 antibodies and factors that influence CD83 activity or expression. The invention also provides mice having a mutant CD83 gene and mice having a transgenic CD83 gene, which are useful for defining the role of CD83 in the immune system and for identifying compounds that can modulate CD83 and the immune system.
Abstract translation: 本发明提供了使用CD83核酸，CD83多肽，抗CD83抗体和影响CD83活性或表达的因子调节细胞因子水平，GM-CSF水平和免疫系统的方法。 本发明还提供具有突变CD83基因的小鼠和具有转基因CD83基因的小鼠，其可用于定义CD83在免疫系统中的作用并鉴定可调节CD83和免疫系统的化合物。
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7.发明授权Method for detecting an individual who is afflicted with or a carrier for Van Buchem's disease 失效用于检测患有Van Buchem病的患者或携带者的方法公开(公告)号：US08110357B2
公开(公告)日：2012-02-07
申请号：US12870568
申请日：2010-08-27
Applicant: Mary E Brunkow , Sean Proll , Brian W Paeper , Karen Staehling-Hampton
Inventor： Mary E Brunkow , Sean Proll , Brian W Paeper , Karen Staehling-Hampton
IPC: C12Q1/68
CPC classification number: C12Q1/6883 , C12Q2600/156
Abstract: The genomic locus responsible for Van Buchem's disease is narrowed to an approximately 92 kb region of human chromosome 17 at 17q21. Individuals afflicted with or carriers of Van Buchem's disease exhibit a 52 kb deletion within this 92 kb region. Methods are provided that permit the differentiation between individuals homozygous for and therefore afflicted with Van Buchem's disease, individuals heterozygous for and therefore carriers of Van Buchem's disease, and individuals who are normal with respect to Van Buchem's disease. Also provided are general methodologies for the detection of a wide variety of large genomic deletions.
Abstract translation: 负责Van Buchem病的基因组位点在17q21处被缩窄为人类染色体17的约92kb区域。 患有Van Buchem病的患者或携带者在该92 kb区域内显示52 kb的缺失。 提供了允许对Van Buchem氏病纯合并因此患病的个体之间的差异，对Van Buchem氏病是杂合的，因此携带者以及Van Buchem氏病正常的个体之间的区分。 还提供了用于检测各种大型基因组缺失的一般方法。
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